Phenotypic Spectrum of <i>NFIA</i> Haploinsufficiency: Two Additional Cases and Review of the Literature

Phenotypic Spectrum of <i>NFIA</i> Haploinsufficiency: Two Additional Cases and Review of the Literature

The <i>NFIA</i> (nuclear factor I/A) gene encodes for a transcription factor belonging to the nuclear factor I family and has key roles in various embryonic differentiation pathways. In humans, <i>NFIA</i> is the major contributor to the phenotypic traits of “Chromosome 1p32p...

Full description

Bibliographic Details
Main Authors: Veronica Bertini, Francesca Cambi, Alessandro Orsini, Alice Bonuccelli, Aureliano Fiorini, Andrea Santangelo, Massimo Scacciati, Maurizio Elia, Ornella Galesi, Diego Peroni, Angelo Valetto
Format: Article
Language:English
Published: MDPI AG 2022-11-01
Series:Genes
Subjects:
nuclearfactor I family
macrocephaly
NCS defects
corpus callosum agenesis/hypoplasia
bilateral proximally placed first fingers
neurodevelopmental disorders
Online Access:https://www.mdpi.com/2073-4425/13/12/2249

Internet

https://www.mdpi.com/2073-4425/13/12/2249

Similar Items